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Hum. Reprod. Advance Access published online on October 6, 2005
Human Reproduction, doi:10.1093/humrep/dei326
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received May 14, 2005
Revised August 13, 2005
Accepted September 9, 2005

Article

Combined estrogen receptor {alpha} and estrogen receptor {beta} genotypes influence the age of menarche

I. Stavrou 1, C. Zois 1, A. Chatzikyriakidou 2, I. Georgiou 2, and A. Tsatsoulis 1*

1 Department of Endocrinology, University of Ioannina, 45110 Ioannina, Greece
2 Laboratory of Reproductive Genetics, University of Ioannina, 45110 Ioannina, Greece

* To whom correspondence should be addressed.
A. Tsatsoulis, E-mail: atsatsou{at}cc.uoi.gr


  Abstract

BACKGROUND: Age at menarche has a strong genetic influence. We reported recently an association between the XbaI (351A->C)and PvuII (397T->C) polymorphisms of the estrogen receptor (ER){alpha} gene with the age of menarche in Greek adolescents. In the present study, we examined whether ER{beta} genotypes alone, or in combination with ER{alpha} genotypes, may also influence onset of menarche. METHODS: We performed genotyping for the single nucleotide polymorphisms 1730A->G and 1082G->A of the ER{beta} gene and examined their association with the age of menarche in the same cohort of 145 Greek girls. We then looked for a possible effect of combined ER{alpha} and {beta} genotypes on the age of menarche. RESULTS: Menarche occurred 7 months later in girls with the AA genotype of the 1730A->G polymorphism than in girls with the AG genotype (mean ± SD: 13.23 ± 1.24 versus 12.66 ± 1.26 years, respectively; P = 0.005). The 1082G->A polymorphism was not detected in any of the girls examined. A significant effect of combined ER{alpha} and {beta} genotypes was also apparent. Menarche occurred 11 months later in girls bearing the AA/TT,AA (ER{alpha},ER{beta}) genotypes compared with girls with the CC/CC,AG genotype (13.30 ± 1.27 versus 12.41 ± 1.28 years; P = 0.042). The difference remained significant after adjusting for body mass index (P = 0.034). CONCLUSION: Combined ER{alpha} and ER{beta} polymorphisms may influence the age of menarche.

Keywords: estrogen receptor {alpha}/estrogen receptor {beta}/genotypes/genetic polymorphisms/menarche.
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